| RS2535523669 |
EGFR
|
Health Risk |
Pathogenic |
EGFR-related lung cancer, EGFR-related lung cancer |
| RS2535525055 |
EYA4
|
Health Risk |
Pathogenic |
Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J |
| RS2535526578 |
PMS2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2535528909 |
EGFR
|
Health Risk |
Pathogenic |
EGFR-related lung cancer, EGFR-related lung cancer |
| RS2535529410 |
PMS2
|
Health Risk |
Pathogenic |
Lynch syndrome 4, Lynch syndrome 4 |
| RS2535531711 |
PMS2
|
Health Risk |
Pathogenic |
Lynch syndrome 4, Lynch syndrome 4 |
| RS2535534097 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2535534725 |
WDFY3
|
Health Risk |
Likely pathogenic |
Microcephaly 18, primary |
| RS2535535215 |
COL11A2
|
Health Risk |
Pathogenic |
— |
| RS2535535951 |
COL11A2
|
Health Risk |
Pathogenic |
— |
| RS2535536400 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2535536735 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2535537579 |
COL11A2
|
Health Risk |
Pathogenic |
— |
| RS2535537688 |
COL11A2
|
Health Risk |
Pathogenic |
— |
| RS2535538577 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2535543723 |
MYO6
|
Health Risk |
Likely pathogenic |
— |
| RS2535543931 |
MYO6
|
Health Risk |
Likely pathogenic |
Autosomal dominant nonsyndromic hearing loss 22, Autosomal dominant nonsyndromic hearing loss 22 |
| RS2535544061 |
MYO6
|
Health Risk |
Likely pathogenic |
Autosomal dominant nonsyndromic hearing loss 22, Autosomal dominant nonsyndromic hearing loss 22 |
| RS2535544504 |
MYO6
|
Health Risk |
Pathogenic |
— |
| RS2535548134 |
PMS2
|
Health Risk |
Pathogenic |
Lynch syndrome 4, Lynch syndrome 4 |
| RS2535549224 |
EGFR
|
Health Risk |
Likely pathogenic |
EGFR-related lung cancer, Thyroid cancer |
| RS2535549765 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2535550306 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2535551655 |
PMS2
|
Health Risk |
Pathogenic |
Lynch syndrome 4, Lynch syndrome 4 |
| RS2535552679 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2535553134 |
MYO6
|
Health Risk |
Likely pathogenic |
Autosomal dominant nonsyndromic hearing loss 22, Autosomal dominant nonsyndromic hearing loss 22 |
| RS2535554334 |
PCLO
|
Health Risk |
Pathogenic |
— |
| RS2535554557 |
COL11A2
|
Health Risk |
Likely pathogenic |
— |
| RS2535555922 |
PMS2
|
Health Risk |
Likely pathogenic |
Lynch syndrome 4, Lynch syndrome 4 |
| RS2535556263 |
PCLO
|
Health Risk |
Pathogenic |
— |
| RS2535556399 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2535556776 |
PMS2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2535557666 |
DLD
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535557716 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535559880 |
COL11A2
|
Health Risk |
Pathogenic |
— |
| RS2535559906 |
COL11A2
|
Health Risk |
Pathogenic |
— |
| RS2535560836 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535561027 |
DLD
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535573567 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535575834 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535575866 |
DLD
|
Health Risk |
Pathogenic/Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535575984 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535575989 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535578376 |
DLD
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535578384 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535579087 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535579088 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535579237 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535579623 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535581669 |
DLD
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535585052 |
MYO6
|
Health Risk |
Pathogenic |
— |
| RS2535586551 |
MYO6
|
Health Risk |
Likely pathogenic |
MYO6-related disorder, MYO6-related disorder |
| RS2535587363 |
MYO6
|
Health Risk |
Pathogenic |
— |
| RS2535598520 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535598734 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535598793 |
DLD
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535598841 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535598922 |
DLD
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535598927 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535601005 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535601324 |
DLD
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535601329 |
DLD
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535601415 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535602178 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535602182 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535602262 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535602325 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535602349 |
DLD
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535602432 |
DLD
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535602518 |
DLD
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535602632 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535602646 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535602750 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535602789 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535602793 |
DLD
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535603950 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535606416 |
DLD
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2535612579 |
BBS9
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9 |
| RS2535613423 |
BBS9
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2535614756 |
COL11A2
|
Health Risk |
Pathogenic |
— |
| RS2535616846 |
MYO6
|
Health Risk |
Pathogenic |
— |
| RS2535641517 |
COG5
|
Health Risk |
Likely pathogenic |
— |
| RS2535683148 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2535685512 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2535687368 |
PCLO
|
Health Risk |
Pathogenic |
— |
| RS2535687536 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2535688296 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2535688312 |
PCLO
|
Health Risk |
Pathogenic |
— |
| RS2535688736 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2535688886 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2535689299 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2535694722 |
UBE3C
|
Health Risk |
Pathogenic/Likely pathogenic |
See cases, Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities |
| RS2535699474 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2535701576 |
HNRNPA2B1
|
Health Risk |
Conflicting classifications of pathogenicity |
Oculopharyngeal muscular dystrophy 2, Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 |
| RS2535701680 |
HNRNPA2B1
|
Health Risk |
Pathogenic |
Oculopharyngeal muscular dystrophy 2, Oculopharyngeal muscular dystrophy 2 |
| RS2535701912 |
HNRNPA2B1
|
Health Risk |
Pathogenic |
Oculopharyngeal muscular dystrophy 2, Oculopharyngeal muscular dystrophy 2 |
| RS2535702155 |
HNRNPA2B1
|
Health Risk |
Pathogenic |
Oculopharyngeal muscular dystrophy 2, Oculopharyngeal muscular dystrophy 2 |
| RS2535702979 |
PCLO
|
Health Risk |
Pathogenic |
— |
| RS2535703262 |
KRIT1
|
Health Risk |
Pathogenic |
Cerebral cavernous malformation, Cerebral cavernous malformation |
| RS2535703286 |
KRIT1
|
Health Risk |
Likely pathogenic |
Cerebral cavernous malformation, Cerebral cavernous malformation |